A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child

A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child

Mosaic trisomy 13 is estimated to occur in 5% of all trisomy 13 cases. Presentation of trisomy 13 mosaicism is highly variable, with cases that may present with a normal phenotype and intellectual function, to cases with grossly abnormal features and profound developmental delays. We present a 2-yea...

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Bibliographic Details
Main Authors: Padilla, Carmencita D, Padilla, Patrick Jose D, Tanchanco, Lourdes S, de la Cruz, Myrian R, Salonga, Edsel G
Format: text
Published: Archīum Ateneo 2020
Subjects:
trisomy 13
mosaic trisomy 13
genetic counseling
SNP array
Maternal and Child Health
Public Health
Online Access:https://archium.ateneo.edu/asmph-pubs/89
https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/1936
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Institution: Ateneo De Manila University
Description
Summary:Mosaic trisomy 13 is estimated to occur in 5% of all trisomy 13 cases. Presentation of trisomy 13 mosaicism is highly variable, with cases that may present with a normal phenotype and intellectual function, to cases with grossly abnormal features and profound developmental delays. We present a 2-year-old female with trisomy 13 mosaicism, who presented with small for gestational age (SGA), polydactyly, ventricular septal defect (VSD), and poor oral feeding.

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